Mutagenetix > Incidental Mutation

Incidental Mutation 'R0313:Ltv1'

175069

Institutional Source

Beutler Lab

Gene Symbol

Ltv1

Ensembl Gene

ENSMUSG00000019814

Gene Name

LTV1 ribosome biogenesis factor

Synonyms

2610020N02Rik

MMRRC Submission

038523-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.414) question?

Stock #

R0313 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

13054341-13068881 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 13058604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019950] [ENSMUST00000019954]

AlphaFold

Q6NSQ7

Predicted Effect

probably null
Transcript: ENSMUST00000019950

SMART Domains

Protein: ENSMUSP00000019950
Gene: ENSMUSG00000019814

Domain	Start	End	E-Value	Type
Pfam:LTV	11	440	3.8e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019954

SMART Domains

Protein: ENSMUSP00000019954
Gene: ENSMUSG00000019815

Domain	Start	End	E-Value	Type
Pfam:zf-C2HC_2	14	38	1.6e-10	PFAM
low complexity region	104	112	N/A	INTRINSIC
Pfam:zf-C2HC_2	117	141	2.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219970

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.9%
20x: 88.5%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	A	G	6: 58,649,082 (GRCm39)	E309G	probably benign	Het
Ankmy1	C	T	1: 92,813,943 (GRCm39)	G412D	probably damaging	Het
Cc2d1a	G	A	8: 84,863,598 (GRCm39)	T542I	probably benign	Het
Cldn18	T	C	9: 99,580,967 (GRCm39)	I94V	probably benign	Het
Cobll1	G	A	2: 64,926,088 (GRCm39)	R1195*	probably null	Het
Dnah7b	A	G	1: 46,246,803 (GRCm39)	T1660A	probably damaging	Het
Dzip3	G	T	16: 48,757,424 (GRCm39)	Q870K	probably damaging	Het
Ebf4	T	C	2: 130,148,707 (GRCm39)		probably benign	Het
Ecpas	A	G	4: 58,811,892 (GRCm39)	I1411T	probably benign	Het
Esyt2	T	C	12: 116,311,428 (GRCm39)	L439P	probably damaging	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Haspin	A	G	11: 73,027,124 (GRCm39)	V655A	probably damaging	Het
Kmt2c	T	C	5: 25,549,928 (GRCm39)	E1351G	probably damaging	Het
Lama2	C	A	10: 26,869,394 (GRCm39)		probably null	Het
Lcp1	A	G	14: 75,436,873 (GRCm39)	E73G	probably damaging	Het
Mcmdc2	A	G	1: 10,002,366 (GRCm39)	Y529C	probably damaging	Het
Myo3b	T	A	2: 70,179,303 (GRCm39)	Y1172*	probably null	Het
Ncf1	T	C	5: 134,258,421 (GRCm39)	M1V	probably null	Het
Or4k47	C	T	2: 111,451,945 (GRCm39)	S158N	possibly damaging	Het
Or6c8b	A	G	10: 128,882,695 (GRCm39)	V79A	possibly damaging	Het
Or8c10	T	C	9: 38,279,600 (GRCm39)	S243P	probably damaging	Het
Pcif1	A	T	2: 164,726,339 (GRCm39)	H80L	probably damaging	Het
Pclo	T	C	5: 14,728,887 (GRCm39)		probably benign	Het
Polr2a	T	C	11: 69,625,906 (GRCm39)	Y1710C	unknown	Het
Ppp1r37	G	A	7: 19,267,923 (GRCm39)	T324I	probably damaging	Het
Prmt1	T	C	7: 44,628,172 (GRCm39)	D176G	probably benign	Het
Scn5a	T	C	9: 119,363,637 (GRCm39)	D501G	probably damaging	Het
Ska2	A	G	11: 87,008,640 (GRCm39)	I89M	possibly damaging	Het
Slc39a7	G	A	17: 34,248,518 (GRCm39)	A375V	probably damaging	Het
Ssrp1	T	A	2: 84,871,898 (GRCm39)	I374N	probably damaging	Het
Stox2	C	T	8: 47,645,169 (GRCm39)	G828R	probably damaging	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Uqcrc1	C	A	9: 108,777,642 (GRCm39)	R114S	possibly damaging	Het
Usp38	A	T	8: 81,711,071 (GRCm39)	L988*	probably null	Het
Vmn2r5	T	A	3: 64,411,248 (GRCm39)	H440L	probably benign	Het
Wdr12	A	T	1: 60,121,738 (GRCm39)	I271N	possibly damaging	Het
Xylt2	C	T	11: 94,560,720 (GRCm39)		probably benign	Het

Other mutations in Ltv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ltv1	APN	10	13,066,327 (GRCm39)	missense	probably benign	0.00
IGL00898:Ltv1	APN	10	13,058,031 (GRCm39)	missense	probably damaging	1.00
IGL01931:Ltv1	APN	10	13,061,245 (GRCm39)	missense	probably damaging	1.00
IGL02929:Ltv1	APN	10	13,067,970 (GRCm39)	missense	possibly damaging	0.80
R0457:Ltv1	UTSW	10	13,067,887 (GRCm39)	missense	probably benign	0.41
R1786:Ltv1	UTSW	10	13,058,280 (GRCm39)	unclassified	probably benign
R1817:Ltv1	UTSW	10	13,055,018 (GRCm39)	missense	probably damaging	1.00
R3780:Ltv1	UTSW	10	13,054,944 (GRCm39)	missense	probably benign	0.25
R4395:Ltv1	UTSW	10	13,066,323 (GRCm39)	missense	probably benign
R5390:Ltv1	UTSW	10	13,058,103 (GRCm39)	missense	probably damaging	1.00
R6271:Ltv1	UTSW	10	13,055,445 (GRCm39)	missense	probably damaging	1.00
R6366:Ltv1	UTSW	10	13,056,739 (GRCm39)	missense	probably benign	0.01
R7057:Ltv1	UTSW	10	13,056,646 (GRCm39)	missense	possibly damaging	0.58
R7975:Ltv1	UTSW	10	13,066,453 (GRCm39)	missense	probably damaging	1.00
R9455:Ltv1	UTSW	10	13,058,117 (GRCm39)	missense	probably damaging	1.00
R9608:Ltv1	UTSW	10	13,066,440 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCACCTCCATCTGACAGAAAGC -3'
(R):5'- TTTATAGCAGTGGAGCCCAGGCAG -3'

Sequencing Primer
(F):5'- AGGTCATAAGTCACCTGTCAAG -3'
(R):5'- TCCTGGGCGCTGGAATTAAAG -3'

Posted On

2014-04-24